Product Details

SNP ID
rs1558525
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:8941397 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGGGTACAGAATAACAACATGAAA[A/G]CAATCAACCCTGTATAAATAATGTT
Phenotype
MIM: 154540 MIM: 602978
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
M6PR PubMed Links

Gene Details

Gene
M6PR
Gene Name
mannose-6-phosphate receptor, cation dependent
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001207024.1 1530 UTR 3 NP_001193953.1
NM_002355.3 1530 UTR 3 NP_002346.1
Gene
PHC1
Gene Name
polyhomeotic homolog 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004426.2 1530 Intron NP_004417.2

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